Osteogenesis imperfecta type 2
ORPHA:216804Clinical subtypeAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| COL1A1 | collagen type I alpha 1 chain | Disease-causing germline mutation(s) in | gene with protein product | 120150 |
| COL1A2 | collagen type I alpha 2 chain | Disease-causing germline mutation(s) in | gene with protein product | 120160 |
| P3H1 | prolyl 3-hydroxylase 1 | Disease-causing germline mutation(s) in | gene with protein product | 610339 |
| CRTAP | cartilage associated protein | Disease-causing germline mutation(s) in | gene with protein product | 605497 |
| PPIB | peptidylprolyl isomerase B | Disease-causing germline mutation(s) in | gene with protein product | 123841 |
| MESD | mesoderm development LRP chaperone | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607783 |
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)